Category Archives: Human Genetics

By Helen Branswell The Canadian Press

A vial of the Canadian-made Ebola vaccine VSV-ZEBOV, is pictured in a recent photo. THE CANADIAN PRESS/HO, Walter Reed Army Institute of Research - Col. Shon Remich.

TORONTO The first human trials of a designed-in-Canada Ebola vaccine suggest it is safe and triggers a rapid immune response, studies published Wednesday reveal.

The work, based on six different clinical trials in the United States, Switzerland, Germany, Gabon and Kenya, found the vaccine quickly generates antibodies in people who receive it. Whether those antibodies protect against infection remains to be seen, but early evidence suggests that is a strong possibility.

The vaccine is called rVSV-ZEBOV and was designed by scientists at the National Microbiology Laboratory in Winnipeg, part of the Public Health Agency of Canada. It is being developed by U.S. biotech NewLink Genetics and pharma giant Merck.

READ MORE:Canadian Ebola vaccine being put to the test

Published in the New England Journal of Medicine, the research describes Phase 1 clinical trials and shows for the first time what happens when this vaccine is given to a number of people.

Phase 1 trials are designed to show if an experimental product is safe and to help determine what an appropriate dose should be. They are too small to answer the question: Does this vaccine work?

It is hoped the answer will come from larger Phase 3 trials currently underway in West Africa.

The research, grouped into two reports, shows people who received the vaccine started to generate antibodies quickly. That is an attractive feature in a vaccine that would be used to quell future Ebola outbreaks, if it makes it through the licensing process.

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1st human studies promising for Ebola vaccine designed in Winnipeg

The Broad Institute of MIT and Harvard have expanded their collaboration with Bayer HealthCare to include cardiovascular genomics and drug discovery. The goal of this new part of the alliance is to leverage insights from human genetics to help create new cardiovascular therapies.

"It is exciting to be expanding on our ongoing, successful partnership with Bayer in oncology," said Professor Eric Lander, President and Director of Broad Institute. "We are looking forward to a fruitful collaboration combining Bayer's expertise in the cardiovascular therapeutic area with Broad's deep knowledge of genomics and biology".

Cardiovascular genomics is an emerging field of cardiology that uses genomic information to characterize disease risk and identify new therapeutic targets for drug discovery. Cardiovascular disease is responsible for approximately one-third of all deaths worldwide each year. While a majority of cardiovascular disease can be associated with lifestyle factors such as tobacco consumption, diet, and level of physical activity, risk genes can influence the predisposition to cardiovascular disease, age of onset, and severity.

"We are excited to broaden our collaboration with the Broad Institute to the area of cardiovascular genomics to discover genes and mutational changes underlying cardiovascular disorders in order to develop new therapies and diagnostic options for these diseases," said Prof. Andreas Busch, Head of Global Drug Discovery and member of the Executive Committee of Bayer HealthCare. "We have been collaborating already for the last two years and have developed a very constructive partnership during this time."

As part of this strategic alliance, Broad Institute and Bayer HealthCare will collaborate on genetic discovery, target validation, and drug discovery activities. Governance for this alliance will be comprised of a joint steering committee and joint research committee that will oversee research progress and direction. Financial terms of the agreement were not disclosed.

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About the Broad Institute of MIT and Harvard

The Eli and Edythe L. Broad Institute of MIT and Harvard was launched in 2004 to empower this generation of creative scientists to transform medicine. The Broad Institute seeks to describe all the molecular components of life and their connections; discover the molecular basis of major human diseases; develop effective new approaches to diagnostics and therapeutics; and disseminate discoveries, tools, methods and data openly to the entire scientific community.

Founded by MIT, Harvard and its affiliated hospitals, and the visionary Los Angeles philanthropists Eli and Edythe L. Broad, the Broad Institute includes faculty, professional staff and students from throughout the MIT and Harvard biomedical research communities and beyond, with collaborations spanning over a hundred private and public institutions in more than 40 countries worldwide. For further information about the Broad Institute, go to broadinstitute.org.

About Cardiology at Bayer

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Broad, Bayer expand partnership to develop therapies for cardiovascular disease

The ACMG Foundation for Genetic and Genomic Medicine announces the first recipient of the ACMG Foundation Carolyn Mills Lovell Award at the 2015 ACMG Annual Clinical Genetics Meeting in Salt Lake City, Utah: First award specifically for genetic counselors

Stephanie Harris, CGC was honored as the first recipient of the ACMG Foundation Carolyn Mills Lovell Award at the American College of Medical Genetics and Genomics (ACMG) 2015 Annual Clinical Genetics Meeting in Salt Lake City, Utah.

Ms. Harris was selected to receive the award for her poster presentation, "The Impact of Variant Reclassification on Hypertrophic Cardiomyopathy Research".

Ms. Harris completed her Masters of Science in Human Genetics and Genetic Counseling at Stanford University School of Medicine in Stanford, CA. and her Bachelor of Science in Biology at Bucknell University in Lewisburg, PA. She is currently a genetic counselor in Cardiovascular Genetics at Brigham and Women's Hospital in Boston, MA.

This award was made possible due to a generous donation by ACMG Medical Director David Flannery, MD, FAAP, FACMG to honor genetic counselor Carolyn Mills Lovell, MAT, MS, CGC. Dr. Flannery worked with Ms. Lovell for over 15 years while he was at the Medical College of Georgia (MCG) of Georgia Regents University, and wanted to recognize the contributions and accomplishments of genetic counselors through this award. This award includes a cash prize of $1000 and will be presented to one recipient annually through 2025.

"I wanted to help recognize genetic counselors who play a huge role in clinical genetic services and felt that this award would help with that and also honor Carolyn, who has always provided exemplary services to families, students and residents at MCG " said ACMG Medical Director David Flannery, MD, FAAP, FACMG.

ACMG Foundation President Bruce R. Korf, MD, PhD, FACMG added, "It is exciting to see the ACMG Foundation offer an award intended specifically for genetic counselors. Genetic counselors are integral members of the genetics care team and their role is expanding in this era of genomic medicine. I am very pleased to see the contribution of genetic counselors recognized through this award."

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The ACMG Foundation for Genetic and Genomic Medicine, a 501(c)(3) nonprofit organization, is a community of supporters and contributors who understand the importance of medical genetics in healthcare. Established in 1992, the ACMG Foundation for Genetic and Genomic Medicine supports the American College of Medical Genetics and Genomics; mission to "translate genes into health" by raising funds to attract the next generation of medical geneticists and genetic counselors, to sponsor important research, to promote information about medical genetics, and much more.

To learn more about the important mission and projects of the ACMG Foundation for Genetic and Genomic Medicine and how you too can support this great cause, please visit http://www.acmgfoundation.org or contact us at acmgf@acmgfoundation.org or 301/718-2014.

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ACMG Foundation announces inaugural recipient of Lovell Award

'Dialogue' by Anna Leoniak and Fiann Paul, a 2008 Reykjavk Arts Festival exhibit featuring photographs of children from Icelandic rural areas.

An Icelandic genetics firm has sequenced the genomes of 2,636 of its countrymen and women, finding genetic markers for a variety of diseases, as well as a new timeline forthe paternal ancestor of all humans.

Iceland is, in many ways, perfectly suited to being a genetic case study. It has a small population with limited genetic diversity, a result of the population descending from a small number of settlersbetween 8 and 20 thousand, who arrived just 1100 years ago.It also has an unusually well-documented genealogical history, with informationsometimes stretching all the way back to the initial settlementof the country. Combined with excellent medical records, it'sa veritable treasure trove for genetic researchers.

The researchers at genetics firm deCODE compared the complete genomes of participants with historical and medical records, publishing their findings in a series of four papers in Nature Geneticslast Wednesday. The wealth of data allowed them to track down genetic mutations that are related to a number ofdiseases, some of them rare. Although few diseases are caused by a single genetic mutation, a combination of mutations can increase the risk for certain diseases. Having access to a large genetic sample with corresponding medical data can help to pinpoint certain risk-increasing mutations.

Among their headline findings was the identification of the gene ABCA7 as a risk factor for Alzheimers disease. Although previous research had established that a gene in this region was involved in Alzheimers, this result delivers a new level of precision. The researchers replicated their results in further groups in Europe and the United States.

Also identified was a genetic mutation that causes early-onset atrial fibrillation, a heart condition causing an irregular and often very fast heart rate. Its the most common cardiac arrhythmia condition, and its considered early-onset if its diagnosed before the age of 60. The researchers found eight Icelanders diagnosed with the condition, all carrying a mutation inthe same gene,MYL4.

The studiesalso turned up a gene with an unusual pattern of inheritance. Itcauses increased levels of thyroid stimulation when its passed down from the mother, but decreased levels when inherited from the father.

Genetic research in mice often involves knocking out or switching off a particular gene to explore the effects. However, mouse genetics arent a perfect approximation of human genetics. Obviously, doing this in humans presents all sorts of ethical problems, but a population such as Iceland provides the perfect natural laboratory to explore how knockouts affect human health.

The data showed that eight percent of people in Iceland have the equivalent of a knockout, one gene that isnt working. This provides an opportunity to look at the data in a different way: rather than only looking for people with a particular diagnosis and finding out what they have in common genetically, the researchers can look forpeople who have genetic knockouts, and then examine their medical records to see how their missing genes affect their health. Its then possible to start piecing together the story of how certain genes affect physiology.

Finally, the researchers used the data to explore human history, using Y chromosome data from 753 Icelandic males. Based on knowledge about mutation rates, Y chromosomes can be used to trace the male lineage of human groups, establishing dates of events like migrations. This technique has also been used to work out when the common ancestor of all humans was alive. The maternal ancestor, known as Mitochondrial Eve, is thought to have lived 170,000 to 180,000 years ago, while the paternal ancestor had previously been estimated to have lived around 338,000 years ago.

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2,636 Icelandic genomes pinpoint risk for Alzheimers, other diseases

Learning from Traditional Societies
An expert discusses his study of traditional native societies, which shows how human genetics have not adapted to change.

By: Radio Health Journal

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Learning from Traditional Societies - Video

While most of us recover from influenza after a week, it can be a very severe disease, and even fatal in rare cases, with no reason for physicians to have expected such an outcome. By analysing the genome of a little girl who contracted a severe form of influenza at the age of two and a half years, researchers at the Laboratory of Human Genetics of Infectious Diseases (a joint French-American international laboratory), which brings together researchers from Inserm, Paris Descartes University, and physicians from the Paris public hospitals (AP-HP; Necker Hospital for Sick Children), working at the Imagine Institute, and from The Rockefeller University in New York, have discovered that she has a genetic mutation, unknown until now, that causes a subtle dysfunction in her immune system. More generally, these results show that genetic mutations could be the root cause of some severe forms of influenza in children, and indicate in any event that immune mechanisms missing in this little girl are needed for protection against this virus in humans. These results are published in the journal Science.

Seasonal influenza is an acute viral infection caused by the influenza virus. It is characterised by high fever, headaches, sore muscles, etc. Apart from vaccination, there is no treatment for it other than symptomatic (pain) treatment. In most cases, patients recover after a week, but in more vulnerable people influenza can cause acute respiratory distress, which is potentially fatal.

The main known risk factors for severe forms of influenza are some acquired comorbidities, such as chronic lung disease. However, the cause of most fatal cases remains unexplained, especially in children.

The absence of cases of severe influenza in patients with known acquired immunodeficiencies, which usually increase susceptibility to infections, is also surprising.

Given these different observations, the researchers at Jean-Laurent Cassanova's and Laurent Abel's laboratory, in Paris and New York, therefore formulated a hypothesis whereby severe influenza in healthy children might be the result of genetic errors.

To test this hypothesis, they sequenced the entire genome of a 7-year-old child who had contracted a severe form of influenza (influenza A virus strain H1N1), requiring her admission to a paediatric intensive care unit in January 2011, at the age of two and a half years. At the time, she showed no other known pathology that might have suggested greater vulnerability to the virus than that of other children.

This analysis, combined with analysis of her parents' genomes, made it possible to show that the little girl had inherited a mutated allele of the gene encoding interferon regulatory factor (IRF7) from both of her parents. The latter is a transcription factor known to amplify the production of interferons in response to viral infection in mice and humans.

In contrast to her parents, in whom the mutation of a single allele of the gene is of no consequence, in the little girl, mutation of both alleles of the gene encoding IRF7 has led to its inactivation. The result: failure to produce interferons, disrupting her system of defence against influenza virus infection in a cascading manner.

By carrying out a comprehensive series of experiments on blood cells, particularly dendritic cells, and by generating lung cells from stem cells taken from the young girl, the researchers provided proof that the mutations observed in this little girl explain the development of severe influenza. Furthermore, this discovery demonstrates that interferon amplification dependent on IRF7 expression is needed for protection against influenza virus in humans. They now need to search for mutations in this or other genes in other children recruited following an episode of unexplained severe influenza.

Based on these initial observations, the researchers at Inserm believe that therapeutic strategies based on recombinant interferons, available in the pharmacopoeia, could help to combat severe forms of influenza in children.

Excerpt from:
What if the severity of our seasonal influenza were related to our genetic background?

Scientists sequenced largest ever set of genomes from a single nation The data reveals some surprising genetic mutations in Icelandic people Data also revealed that the father of humanity is older than first thought Eight per cent of the population has a gene that doesn't function at all Study found genes that increase the risk of Alzheimer's and liver disease Scientists say data will help them develop better treatments for disease

By Ellie Zolfagharifard For Dailymail.com

Published: 17:09 EST, 25 March 2015 | Updated: 03:19 EST, 26 March 2015

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In a genetic first, scientists have sequenced the largest ever set of human genomes from a single population.

The epic undertaking involved sequencing the DNA of 2,636 Icelanders and comparing them with the partial sequences of another 104,000.

Among several key finds, the data set suggests that the 'father of humanity' - our most recent common male ancestor - lived between 174,000 and 321,000 years ago.

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Landmark DNA study in Iceland reveals new insights into evolution and disease

Download Human Genetics and Society Paperback PDF
Download the PDF here : http://bit.ly/1MVB3NL.

By: Gobank Peso

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Human Genetics Lab Part 4 Vid
Human Blood Typing ABO System.

By: Laura Anna See

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Human Genetics Lab Part 4 Vid - Video

Human Genetics Lab Part 1 Vid
Normal Mendelian inheritance patterns - single allele and multiple allele traits.

By: Laura Anna See

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Human Genetics Lab Part 1 Vid - Video